Archives of neurology · 1999
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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De Jonghe P, Timmerman V, Nelis E, De Vriendt E, Löfgren A, Ceuterick C, Martin J J, Van Broeckhoven C
Аннотация
BACKGROUND: Three loci for autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1) have been identified on chromosomes 17p11.2 (CMT1A), 1q21-q23 (CMT1B), and 10q21.1-q22.1 (designated here as CMT1D). The genes involved are peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), and the early growth response element 2 (EGR2), respectively. Probably a fourth locus (CMT1C) exists since some autosomal dominant HMSN I families have been excluded for linkage with the CMT1A and CMT1B loci. Four loci for autosomal dominant hereditary motor and sensory neuropathy type II (HMSN II) or Charcot-Marie-Tooth disease type 2 (CMT2) have been localized on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), 7p14 (CMT2D), and 3p (HMSN-P).
OBJECTIVE: To describe the clinical, electrophysiologic, and neuropathological features of a novel type of Charcot-Marie-Tooth disease.
PATIENTS AND METHODS: We performed linkage studies with anonymous DNA markers flanking the known CMT1 and CMT2 loci. Patients and their relatives underwent clinical neurologic examination and electrophysiologic testing. In the proband, a sural nerve biopsy specimen was examined.
RESULTS: Linkage studies excluded all known CMT1 and CMT2 loci. The clinical phenotype is mild and almost all affected individuals remain asymptomatic. Electrophysiologic and histopathological studies showed signs of a demyelinating neuropathy, but the phenotype is unusual for either autosomal dominant HMSN I or HMSN II.
CONCLUSION: Our findings indicate that the HMSN in this family represents a novel clinical and genetic entity.
OBJECTIVE: To describe the clinical, electrophysiologic, and neuropathological features of a novel type of Charcot-Marie-Tooth disease.
PATIENTS AND METHODS: We performed linkage studies with anonymous DNA markers flanking the known CMT1 and CMT2 loci. Patients and their relatives underwent clinical neurologic examination and electrophysiologic testing. In the proband, a sural nerve biopsy specimen was examined.
RESULTS: Linkage studies excluded all known CMT1 and CMT2 loci. The clinical phenotype is mild and almost all affected individuals remain asymptomatic. Electrophysiologic and histopathological studies showed signs of a demyelinating neuropathy, but the phenotype is unusual for either autosomal dominant HMSN I or HMSN II.
CONCLUSION: Our findings indicate that the HMSN in this family represents a novel clinical and genetic entity.
Предметные рубрики MeSH
BiopsyCharcot-Marie-Tooth DiseaseChromosomes, Human, Pair 1Chromosomes, Human, Pair 3Chromosomes, Human, Pair 7DNA Mutational AnalysisElectrophysiologyFamily HealthFemaleGenes, DominantGenetic LinkageGenetic MarkersGenotypeHumansMaleMedian NerveMiddle AgedMyelin ProteinsNerve Fibers, MyelinatedNeural ConductionPedigreePhenotypePromoter Regions, GeneticUlnar Nerve